Canonical Allele Identifier: CA16618684

Gene: CHD7

Linked Data

• ClinVar Variation Id: 419372
• ClinVar RCV Id: RCV000482479
• dbSNP Id: rs1554605972
• MyVariant Identifiers: chr8:g.61773501dupA (hg19) ; chr8:g.60860942dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860942dup , CM000670.2:g.60860942dup	GRCh38
NC_000008.10:g.61773501dup , CM000670.1:g.61773501dup	GRCh37
NC_000008.9:g.61936055dup	NCBI36
NG_007009.1:g.187163dup , LRG_176:g.187163dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.823dup
ENST00000695851.1:n.27dup
ENST00000695853.1:c.*706dup	ENSP00000512218.1:n.*706dup
ENST00000423902.7:c.7647dup MANE Select	ENSP00000392028.1:p.Glu2550ArgfsTer26
ENST00000423902.6:c.7647dup	ENSP00000392028.1:p.Glu2550ArgfsTer26
ENST00000524602.5:c.1717-1287dup	ENSP00000437061.1:n.1717-1287dup
ENST00000531695.1:n.71dup
ENST00000618450.1:n.39dup
NM_001316690.1:c.1717-1287dup	NP_001303619.1:n.1717-1287dup
NM_017780.3:c.7647dup	NP_060250.2:p.Glu2550ArgfsTer26
XM_011517553.1:c.7737dup	XP_011515855.1:p.Glu2580ArgfsTer26
XM_011517554.1:c.7737dup	XP_011515856.1:p.Glu2580ArgfsTer26
XM_011517555.1:c.7734dup	XP_011515857.1:p.Glu2579ArgfsTer26
XM_011517556.1:c.7699-1254dup	XP_011515858.1:n.7699-1254dup
XM_011517557.1:c.5724dup	XP_011515859.1:p.Glu1909ArgfsTer26
XM_011517558.1:c.5274dup	XP_011515860.1:p.Glu1759ArgfsTer26
XM_011517559.1:c.4482dup	XP_011515861.1:p.Glu1495ArgfsTer26
XM_011517553.2:c.7737dup	XP_011515855.1:p.Glu2580ArgfsTer26
XM_011517554.3:c.7737dup	XP_011515856.1:p.Glu2580ArgfsTer26
XM_011517555.2:c.7734dup	XP_011515857.1:p.Glu2579ArgfsTer26
XM_017013612.1:c.7737dup	XP_016869101.1:p.Glu2580ArgfsTer26
XM_017013613.1:c.7644dup	XP_016869102.1:p.Glu2549ArgfsTer26
NM_017780.4:c.7647dup MANE Select	NP_060250.2:p.Glu2550ArgfsTer26